chr1:169549811:T>C Detail (hg38) (F5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:169,519,049-169,519,049 View the variant detail on this assembly version. |
| hg38 | chr1:169,549,811-169,549,811 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000130.4:c.1601A>G | NP_000121.2:p.Arg534= |
| Ensemble | ENST00000367796.3:c.1601A>G | ENST00000367796.3:p.Arg534= |
| ENST00000367797.9:c.1601A>G | ENST00000367797.9:p.Arg534= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:1.000 |
| ToMMo:1.000 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:1.000 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr1:169,549,811-169,549,811
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1180
- Mean of sample read depth (HGVD)
- 24.21
- Standard deviation of sample read depth (HGVD)
- 12.05
- Number of reference allele (HGVD)
- 0
- Number of alternative allele (HGVD)
- 2355
- Allele Frequency (HGVD)
- 1.0
- Gene Symbol (HGVD)
- F5
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs6025
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8618
- East Asian Allele Counts (ExAC)
- 8618
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 4309
- East Asian Allele Frequency (ExAC)
- 1.0
- Chromosome Counts in All Race (ExAC)
- 121322
- Allele Counts in All Race (ExAC)
- 118714
- Heterozygous Counts in All Race (ExAC)
- 2520
- Homozygous Counts in All Race (ExAC)
- 58097
- Allele Frequency in All Race (ExAC)
- 0.9785034865894067
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